Outcome of Preventive Surgery and Screening for Breast and Ovarian Cancer in BRCA Mutation Carriers
Abstract & Commentary
To prospectively determine the effect of genetic counseling and testing on risk-reduction strategies and cancer incidence in a cohort of individuals at hereditary risk for breast and ovarian cancer, Scheuer and colleagues identified 251 individuals with BRCA mutations at a single comprehensive cancer center from 1995 through 2000. Uniform recommendations regarding screening and preventive surgery were provided in the context of genetic counseling. Patients were followed for a mean of 24.8 months (range, 1.6-66.0 months) using standardized questionnaires, chart reviews, and contact with primary physicians. Frequency of cancer surveillance by physical examinations and imaging studies increased after genetic counseling and testing. Twenty-one breast, ovarian, primary peritoneal, or fallopian tube cancers were detected after receipt of genetic test results. Among 29 individuals choosing risk-reducing mastectomy after testing, 2 were found to have occult intraductal breast cancers. Among 90 individuals who underwent risk-reducing salpingo-oophorectomy, 1 early-stage ovarian neoplasm and 1 early-stage fallopian tube neoplasm were found. Radiographic or tumor marker-based screening detected 6 breast cancers, 5 of which were stage 0/I, on early-stage primary peritoneal cancer, and 3 stage I or II ovarian cancers. Six additional breast cancers were detected by physical examination between radiographic screening intervals; 4 of these 6 tumors were stage I. No stage III or stage IV malignancies were detected after genetic testing. Scheuer et al concluded that this study provides prospective evidence that genetic counseling and testing increased surveillance and led to risk-reducing operations, which resulted in diagnosis of early-stage tumors in patients with BRCA1 and BRCA2 mutations (Scheuer L, et al. J Clin Oncol. 2002; 20:1260-1268).
Comment by David M. Gershenson, MD
With the discovery of the BRCA gene mutations in the 1990s and the almost simultaneous recognition of women at high risk for the development of breast, ovarian, and related gynecologic cancers, several large centers established high-risk screening programs for risk assessment, prevention, early detection, and surveillance. The group at Memorial Sloan-Kettering Cancer Center has been in the forefront of this paradigm shift. This study reports the experience of these investigators with women with BRCA mutations. Based on identification of these BRCA1 or BRCA2 mutations, women underwent more intense surveillance or prophylactic surgery. Scheuer et al have detailed a number of cancers diagnosed at a relatively early stage. The implication of this study is that women who may be at high risk of developing breast, ovarian, or related cancers (fallopian tube, primary peritoneal) based on family history or personal history of breast cancer should consider enrolling in a comprehensive screening program such as this one rather than simply requesting periodic ovarian screening or genetic testing from their physician. Such a program provides comprehensive risk assessment, genetic counseling, and psychosocial support. In addition, we will continue to gain additional knowledge about optimal approaches through the accrual of large numbers of women studied in a systematic fashion. Stay tuned for several other similar reports from major centers.
Dr Gershenson is Professor and Chairman, Department of Gynecology, M.D. Anderson Cancer Center, Houston.
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